Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R248W
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TP53

NM_000546.6:p.R248W

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Preclinical drug screen identifies WEE1 inhibitor and vinca alkaloid as a combination treatment concept for Li-Fraumeni syndrome medulloblastoma.

Kolodziejczak AS et al.

Iscience, 2026

Genomic Insights into Cutaneous Squamous Cell Carcinoma.

Saglimbeni GS et al.

Cancers, 2026

Precision oncology in Bulgaria: a prospective study of metastatic colorectal cancer patients.

Dimitrov G et al.

Cancer Treatment and Research Communications, 2026

Single-cell profiling reveals reprogrammed hierarchy and disrupted immune-stromal ecosystem in TP53-mutated AML.

Qiu G et al.

Experimental Hematology & Oncology, 2026

41634865 (PubMed )
Supplement: 40164_2026_751_MOESM3_ESM.xlsx › Sheet1

Mutant p53 promotes clonal hematopoiesis by generating a chronic inflammatory microenvironment.

Chen S et al.

The Journal of Clinical Investigation, 2026

Etiology of TP53 mutated complex karyotype acute myeloid leukemia.

Fedenko A et al.

Leukemia, 2026

41419603 (PubMed )
Supplement: 41375_2025_2835_MOESM1_ESM.pdf

Establishment of a Large-Scale PDX Library of Head and Neck Cancers for Functional Precision Oncology.

Yanagi H et al.

Cancer Medicine, 2026

41709080 (PubMed )
Supplement: CAM4-15-e71521-s001.xlsx › SupplementaryTableS2

Next-Generation Sequencing-Based Detection of KRAS G12D Variants in Colorectal Cancer: A Retrospective Cohort Study.

Hekimoglu G et al.

Genes, 2026

TP53 mutation predict poor prognosis in diffuse large B-cell lymphoma: a single-center study.

Zhang H et al.

Annals of Hematology, 2026

41609884 (PubMed )
Supplement: 277_2026_6821_MOESM2_ESM.xlsx › Sheet1

Common gene mutations in 103 authenticated colorectal cancer cell lines.

Kranjec C et al.

Oncogenesis, 2026

41593049 (PubMed )
Supplement: 41389_2026_599_MOESM2_ESM.xlsx › Supplementary_Table_10

CP-31398 restored the functional condensates of R175H p53 by stabilizing the zinc-binding domain and 251-258 segment.

Liu Y et al.

Colloids and Surfaces. B, Biointerfaces, 2026

Correlation analysis of TP53 missense mutations and p53 protein expression patterns in endometrial carcinoma.

Yang Y et al.

Human Pathology, 2026

TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.

Liu S et al.

Annals of Hematology, 2026

41559357 (PubMed )
Supplement: 277_2026_6771_MOESM2_ESM.xlsx › TableS2

A framework for the molecular identification of CHIP for clinical research.

Harraka P et al.

Hgg Advances, 2026

41566785 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Prevalence and clinico-morphological correlates of STK11 mutations in a large cohort of NSCLC lung adenocarcinomas.

Rustamov R et al.

Virchows Archiv : an International Journal of Pathology, 2026

Construction of Small-Molecule Deubiquitinase-Targeting Chimeras to Reactivate and Stabilize Mutant p53 Y220C in Vitro and in Vivo.

He C et al.

Angewandte Chemie (international Ed. in English), 2026

Low-VAF TP53-Mutated AML Displays Distinct Biological Features in a Single-Center Cohort.

Lu X et al.

Biomedicines, 2026

T cell receptor-engineered T cells targeting the TP53R248Q neoantigen elicit antitumor effects in human cancer models.

Shen L et al.

The Journal of Clinical Investigation, 2026

Ultra-deep duplex sequencing reveals unique features of somatic evolution in the normal tissues of a family with Li-Fraumeni syndrome.

Colegrove HL et al.

Biorxiv : the Preprint Server for Biology, 2026

Prospective implementation of an aqueous humor liquid biopsy platform informs clinical diagnosis and management of retinoblastoma and other intraocular lesions.

Kagami LAT et al.

Npj Precision Oncology, 2026

41526667 (PubMed )
Supplement: 41698_2025_1255_MOESM2_ESM.xlsx › LP-WGS___TSP_other_malignancy

Acquired on-target alterations drive clinical resistance to p53-Y220C reactivators.

Fece de la Cruz F et al.

Cancer Discovery, 2026

Systematic evaluation of neoepitope predictions challenges clinically observed T-cell responses and their impact on immune evasion.

Zaghla BKQ et al.

Journal for Immunotherapy of Cancer, 2026

APOBEC3C coordinates DDX5 in R-loop resolution and dynamic control of Chk1-mediated stress-responsive circuitry as a prerequisite for gemcitabine resistance in p53-deficient cells.

Tao L et al.

Cell Death & Disease, 2026

PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.

Wang Y et al.

Military Medical Research, 2026

41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S9

ERBB2 amplification is a late event in the pathogenesis of high-grade endometrial carcinomas with heterogeneous HER2 expression.

Chui MH et al.

The Journal of Pathology, 2026

Mutant p53: evolving perspectives.

Efe G et al.

Genes & Development, 2026

Decoding the Mutational Hierarchy of Thyroid Cancer and Associated Signaling Pathways.

Nashier D et al.

Archives of Medical Research, 2026

Clinical utility of longitudinal circulating tumor DNA analysis in metastatic colorectal cancer patients receiving palliative chemotherapy.

Oh CR et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026

The p53 R181C mutation accumulates through impaired deacetylation by Sirt1 and facilitates tumor development.

Wang E et al.

Communications Biology, 2026

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc4.xlsx › Sheet_1

Mutant p53 affects the mitochondrial proteome, promoting mitochondrial fragmentation and OXPHOS in pancreatic ductal adenocarcinoma cells.

Poles M et al.

The Febs Journal, 2026

Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan.

Habano E et al.

Journal of Human Genetics, 2026

Bridge Capture Permits Cost-Efficient, Rapid, and Sensitive Molecular Precision Diagnostics.

Adamusová S et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Comparative Analysis of TP53-Mutated Tumor DNA in Saliva and Plasma of Patients with Head and Neck Squamous Cell Carcinoma.

Kampel L et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Noninvasive genotyping and early disease dynamics demonstrate the efficacy of ibrutinib in combination with immunochemotherapy in patients with mantle cell lymphoma treated in the TRIANGLE trial.

Khouja M et al.

Leukemia, 2026

41184633 (PubMed )
Supplement: 41375_2025_2787_MOESM2_ESM.xlsx › Table_S5

Mixed-Phenotype Acute Leukemia With Mutated TP53: Genetic Landscape, Therapeutic Response, and Outcomes.

Wang WJ et al.

American Journal of Hematology, 2026

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.

Montellier E et al.

Ebiomedicine, 2026

Clinical Features and Treatment Strategies of Li-Fraumeni Syndrome Patients With Inherited TP53 Mutations.

Chen K et al.

Molecular Genetics & Genomic Medicine, 2026

The impact of p53 mutation on tumor immune evasion: mechanistic insights and clinical implications.

Liang L et al.

Frontiers in Immunology, 2026

Multiple ETS family transcription factors bind mutant p53 via distinct interaction regions.

Metcalf SA et al.

Febs Letters, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."